778048001: Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of both lower limbs\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Metabolic disease\Mitochondrial cytopathy\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Metabolic disease\Chronic metabolic disorder\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Chronic disease\Chronic metabolic disorder\MT-ATP6-related mitochondrial spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\MT-ATP6-related mitochondrial spastic paraplegia

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737505015 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia en Synonym Active Initial character case insensitive SNOMED CT core

3737506019 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3737507011 Maternally-inherited spastic paraplegia en Synonym Active Case insensitive SNOMED CT core

3737508018 MT-ATP6-related mitochondrial spastic paraplegia en Synonym Active Case sensitive SNOMED CT core

3737448011 A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MT-ATP6-related mitochondrial spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Some	1
MT-ATP6-related mitochondrial spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Associated morphology	Degeneration	false	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Structure of lower limb	false	Inferred relationship	Some	1
MT-ATP6-related mitochondrial spastic paraplegia	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
MT-ATP6-related mitochondrial spastic paraplegia	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
MT-ATP6-related mitochondrial spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Some	3
MT-ATP6-related mitochondrial spastic paraplegia	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease	true	Inferred relationship	Some
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Structure of lower limb	false	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
MT-ATP6-related mitochondrial spastic paraplegia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
MT-ATP6-related mitochondrial spastic paraplegia	Interprets	Movement	true	Inferred relationship	Some	6
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Structure of right lower limb	true	Inferred relationship	Some	2
MT-ATP6-related mitochondrial spastic paraplegia	Finding site	Structure of left lower limb	true	Inferred relationship	Some	5
MT-ATP6-related mitochondrial spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Some	4
MT-ATP6-related mitochondrial spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737505015	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3737506019	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3737507011	Maternally-inherited spastic paraplegia	en	Synonym	Active	Case insensitive	SNOMED CT core
3737508018	MT-ATP6-related mitochondrial spastic paraplegia	en	Synonym	Active	Case sensitive	SNOMED CT core
3737448011	A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	en	Definition	Active	Case sensitive	SNOMED CT core